E288V (p.Glu288Val) variant of SERPINA1 (Alpha-1-antitrypsin)
E288V (p.Glu288Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive SERPINA1-related disorders; Inborn genetic diseases; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E288V (p.Glu288Val) variant details
- p.Glu288Val
- rs17580
- ClinGen CA127679
- cosmic curated COSV63345
- ClinVar RCV000019569
- Pathogenic
- Autosomal recessive SERPINA1-related disorders; Inborn genetic diseases; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in S and T)
- UniProt: Pathogenic (in S and T)
- Most common in the HGDP:BASQUE population (allele frequency 0.18)
- Structural context available
- Cited in: The abnormality of the S variant of human alpha-1-antitrypsin. (PMID 1087161)
- Cited in: SERPINA2 is a novel gene with a divergent function from SERPINA1. (PMID 23826168)